Linked Data
dbSNP Id:
rs769877411
ExAC:
22:17566091 A / G
gnomAD v2:
22-17566091-A-G
gnomAD v3:
22-17085201-A-G
gnomAD v4:
22-17085201-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085201A>G , CM000684.2:g.17085201A>G | GRCh38 |
| NC_000022.10:g.17566091A>G , CM000684.1:g.17566091A>G | GRCh37 |
| NC_000022.9:g.15946091A>G | NCBI36 |
| NG_028257.1:g.5241A>G , LRG_355:g.5241A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.110A>G | ENSP00000479970.1:p.Asp37Gly | |
| ENST00000694948.1:n.208A>G | ||
| ENST00000694949.1:n.205A>G | ||
| ENST00000694950.1:c.190A>G | ||
| ENST00000319363.11:c.110A>G MANE Select | ENSP00000320936.6:p.Asp37Gly | |
| ENST00000319363.10:c.110A>G | ENSP00000320936.6:p.Asp37Gly | |
| ENST00000459971.1:n.145A>G | ||
| ENST00000477874.1:n.248A>G | ||
| ENST00000612619.1:c.110A>G | ENSP00000479970.1:p.Asp37Gly | |
| NM_001289905.1:c.110A>G | NP_001276834.1:p.Asp37Gly | |
| NM_014339.6:c.110A>G , LRG_355t1:c.110A>G | NP_055154.3:p.Asp37Gly | |
| NM_014339.7:c.110A>G MANE Select | NP_055154.3:p.Asp37Gly | |
| NM_001289905.2:c.110A>G | NP_001276834.1:p.Asp37Gly |